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NEU1 Gene

protein-coding   GIFtS: 65
GCID: GC06M031825

Sialidase 1 (Lysosomal Sialidase)


(Previous symbol: NEU)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Sialidase 1 (Lysosomal Sialidase)1 2     N-Acetyl-Alpha-Neuraminidase 12 3
NEU1 2 5     EC 3.2.1.183 8
Acetylneuraminyl Hydrolase2 3     SIAL12 5
Lysosomal Sialidase2 3     exo-alpha-sialidase2
NANH2 3     sialidase-12
G9 Sialidase2 3     

External Ids:    HGNC: 77581   Entrez Gene: 47582   Ensembl: ENSG000002043867   OMIM: 6082725   UniProtKB: Q995193   

Export aliases for NEU1 gene to outside databases

Previous GC identifers: GC06M031898 GC06M031597 GC06M031931 GC06M031934


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for NEU1 Gene:
The protein encoded by this gene is a lysosomal enzyme that cleaves terminal sialic acid residues from substrates
such as glycoproteins and glycolipids. In the lysosome, this enzyme is part of a heterotrimeric complex together
with beta-galactosidase and cathepsin A (the latter is also referred to as 'protective protein'). Mutations in
this gene can lead to sialidosis, a lysosomal storage disease that can be type 1 (cherry red spot-myoclonus
syndrome or normosomatic type), which is late-onset, or type 2 (the dysmorphic type), which occurs at an earlier
age with increased severity. (provided by RefSeq, Jul 2008)

GeneCards Summary for NEU1 Gene:
NEU1 (sialidase 1 (lysosomal sialidase)) is a protein-coding gene. Diseases associated with NEU1 include sialidosis, type ii, and congenital sialidosis type 2. GO annotations related to this gene include exo-alpha-(2->3)-sialidase activity and exo-alpha-(2->8)-sialidase activity.

UniProtKB/Swiss-Prot: NEUR1_HUMAN, Q99519
Function: Catalyzes the removal of sialic acid (N-acetylneuraminic acid) moities from glycoproteins and
glycolipids. To be active, it is strictly dependent on its presence in the multienzyme complex. Appears to have a
preference for alpha 2-3 and alpha 2-6 sialyl linkage

Gene Wiki entry for NEU1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000006.12  NC_018917.2  NT_007592.16  NT_113891.3  NT_167244.2  NT_167245.2  NT_167246.2  NT_167247.2  
NT_167248.2  NT_167249.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NEU1 gene promoter:
         GR   Brachyury   GR-beta   MyoD   STAT3   GR-alpha   Tal-1beta   c-Ets-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNEU1 promoter sequence
   Search Chromatin IP Primers for NEU1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NEU1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.3   Ensembl cytogenetic band:  6p21.33   HGNC cytogenetic band: 6p21

NEU1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NEU1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M031825:  view genomic region     (about GC identifiers)

Start:
31,825,436 bp from pter      End:
31,830,709 bp from pter
Size:
5,274 bases      Orientation:
minus strand

Selected alternative locations (see all 7):
Chr6-,NT_167247 3,206,707-3,210,587      Chr6-,NT_167246 3,169,888-3,173,768      Chr6-,NT_167245 3,112,415-3,116,295     
Chr6-,NT_113891.2 3,336,576-3,340,456      Chr6-,NT_167248 3,120,620-3,124,500      Chr6-,NT_167244 3,141,584-3,145,464     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NEUR1_HUMAN, Q99519 (See protein sequence)
Recommended Name: Sialidase-1 precursor  
Size: 415 amino acids; 45467 Da
Subunit: Interacts with cathepsin A (protective protein), beta-galactosidase and N-acetylgalactosamine-6-sulfate
sulfatase in a multienzyme complex

Explore the universe of human proteins at neXtProt for NEU1: NX_Q99519

Explore proteomics data for NEU1 at MOPED

Post-translational modifications: 

  • N-glycosylated1
  • Phosphorylation of tyrosine within the internalization signal results in inhibition of sialidase internalization
    and blockage on the plasma membrane1
  • Glycosylation2 at Asn186, Asn343, Asn352
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for NEU1 (Q99519) (see all 7)
     DQGSTWS  DGLNLGAVV  APQLYVLYEKGRN  VASTMLVWSKDDG 


    See NEU1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000425.1  
    ENSEMBL proteins: 
     ENSP00000433127   ENSP00000364782  
    Reactome Protein details: Q99519

    NEU1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for NEU1
    OriGene Custom MassSpec
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    Novus Biologicals NEU1 Proteins
    Novus Biologicals NEU1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for NEU1
    Browse Proteins at Cloud-Clone Corp.

    NEU1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for NEU1 (NEU-1/Sialidase-1)
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    Novus Biologicals NEU1 Antibodies
    Abcam antibodies for NEU1
    Browse Antibodies at Cloud-Clone Corp.
    Search ThermoFisher Antibodies for NEU1
    LSBio Antibodies in human, mouse, rat for NEU1

    NEU1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for NEU1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for NEU1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR011040 Sialidases
     IPR026942 Sialidase-1
     IPR026856 Sialidase_fam

    Graphical View of Domain Structure for InterPro Entry Q99519

    ProtoNet protein and cluster: Q99519

    UniProtKB/Swiss-Prot: NEUR1_HUMAN, Q99519
    Domain: A C-terminal internalization signal (YGTL) appears to allow the targeting of plasma membrane proteins to
    endosomes
    Similarity: Belongs to the glycosyl hydrolase 33 family
    Similarity: Contains 4 BNR repeats


    NEU1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NEUR1_HUMAN, Q99519
    Function: Catalyzes the removal of sialic acid (N-acetylneuraminic acid) moities from glycoproteins and
    glycolipids. To be active, it is strictly dependent on its presence in the multienzyme complex. Appears to have a
    preference for alpha 2-3 and alpha 2-6 sialyl linkage
    Catalytic activity: Hydrolysis of alpha-(2->3)-, alpha-(2->6)-, alpha-(2->8)- glycosidic linkages of terminal
    sialic acid residues in oligosaccharides, glycoproteins, glycolipids, colominic acid and synthetic substrates
    Biophysicochemical properties: pH dependence: Optimum pH is 4.6;

         Genatlas biochemistry entry for NEU1:
    neuraminidase,lysosomal,involved in stepwise degradation of complex type of oligosaccharide structure
    (glycoprotein catabolism),and cleavage of sialic acid from GM1 gangliosides

         Enzyme Number (IUBMB): EC 3.2.1.181 2

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004308exo-alpha-sialidase activity IDA8985184
    GO:0005515protein binding ----
    GO:0052794exo-alpha-(2->3)-sialidase activity IEA--
    GO:0052795exo-alpha-(2->6)-sialidase activity IEA--
    GO:0052796exo-alpha-(2->8)-sialidase activity IEA--
         
    NEU1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for NEU1:
     Increased S DNA content  Synthetic lethal with Ras 

         Selected MGI mutant phenotypes (inferred from 4 alleles(MGI details for Neu1) (see all 17):
     behavior/neurological  cardiovascular system  cellular  growth/size/body  hematopoietic system 
     homeostasis/metabolism  immune system  integument  liver/biliary system  mortality/aging 
     muscle  nervous system  no phenotypic analysis  renal/urinary system  respiratory system 

    NEU1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NEU1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NEU1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NEU1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NEU1

    miRNA
    Products:
        
    miRTarBase miRNAs that target NEU1:
    hsa-mir-155-5p (MIRT020584)

    Block miRNA regulation of human, mouse, rat NEU1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NEU1 (see all 12):
    hsa-miR-205 hsa-miR-125a-5p hsa-miR-1283 hsa-miR-520d-5p hsa-miR-130a* hsa-miR-23c hsa-miR-23b hsa-miR-125b
    SwitchGear 3'UTR luciferase reporter plasmidNEU1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for NEU1
    Predesigned siRNA for gene silencing in human, mouse, rat NEU1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for NEU1

    Clone
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    OriGene clones in human, mouse for NEU1 (see all 8)
    OriGene ORF clones in mouse, rat for NEU1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NEU1 (NM_000434)
    Sino Biological Human cDNA Clone for NEU1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NEU1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NEU1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for NEU1
    Browse ESI BIO Cell Lines and PureStem Progenitors for NEU1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NEU1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NEUR1_HUMAN, Q99519: Lysosome membrane; Peripheral membrane protein; Lumenal side. Lysosome lumen. Cell membrane.
    Cytoplasmic vesicle. Note=Localized not only on the inner side of the lysosomal membrane and in the lysosomal
    lumen, but also on the plasma membrane and in intracellular vesicles
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome5
    plasma membrane5
    vacuole5
    cytosol1
    golgi apparatus1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome IDA8985184
    GO:0005765lysosomal membrane IEA--
    GO:0005886plasma membrane IEA--
    GO:0016023cytoplasmic membrane-bounded vesicle IEA--
    GO:0030054cell junction IDA--

    NEU1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for NEU1 About    
    See pathways by source

    SuperPathContained pathways About
    1Sphingolipid metabolism
    Sphingolipid metabolism0.61
    Glycosphingolipid metabolism0.56
    Sphingolipid metabolism0.61
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    3Other glycan degradation
    Other glycan degradation
    4Lysosome
    Lysosome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2 Reactome Pathways for NEU1
        Sialic acid metabolism
    Glycosphingolipid metabolism


    3 Kegg Pathways  (Kegg details for NEU1):
        Other glycan degradation
    Sphingolipid metabolism
    Lysosome


    NEU1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including NEU1: 
              Glycosylation in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for NEU1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    Selected Interacting proteins for NEU1 (Q995192, 3 ENSP000003647824) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GLB1P162783, ENSP000003069204I2D: score=4 STRING: ENSP00000306920
    CTSAP106193, ENSP000003615624I2D: score=4 STRING: ENSP00000361562
    EEF1A1P681043I2D: score=4 
    GALNSP340593I2D: score=1 
    HDAC5Q9UQL63I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006665sphingolipid metabolic process TAS--
    GO:0006687glycosphingolipid metabolic process TAS--
    GO:0009313oligosaccharide catabolic process IMP8985184
    GO:0016042lipid catabolic process IEA--
    GO:0044281small molecule metabolic process TAS--

    NEU1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NEU1 (NEUR1)

    Selected HMDB Compounds for NEU1 (see all 61)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Galactosylceramide (d18:1/16:0)Galactocerebroside (see all 15)----
    Galactosylceramide (d18:1/18:0)Galactocerebroside (see all 15)----
    Galactosylceramide (d18:1/18:1(9Z))Galactocerebroside (see all 15)----
    Galactosylceramide (d18:1/20:0)Galactocerebroside (see all 15)----
    Galactosylceramide (d18:1/22:0)Galactocerebroside (see all 15)----
    Galactosylceramide (d18:1/24:1(15Z))Galactocerebroside (see all 15)----
    Galactosylceramide (d18:1/26:1(17Z))Galactocerebroside (see all 15)----
    Ganglioside GA2 (d18:1/12:0)Asialo GM2 (see all 9)88506-68-7--
    Ganglioside GA2 (d18:1/16:0)Asialo GM2 (see all 9)88506-68-7--
    Ganglioside GA2 (d18:1/18:0)Asialo GM2 (see all 9)88506-68-7--

    1 DrugBank Compound for NEU1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Oseltamivir-- 204255-11-8targetinhibitor20222714

    Selected Novoseek inferred chemical compound relationships for NEU1 gene (see all 98)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zanamivir 96.1 167 8553549 (3), 10544106 (3), 7549872 (2), 11197587 (2) (see all 99)
    oseltamivir 95.6 210 18480754 (3), 11197587 (2), 19943705 (2), 19086415 (2) (see all 99)
    sialic acid 93.6 329 2067026 (4), 10741468 (3), 7844831 (2), 8115995 (2) (see all 99)
    oseltamivir carboxylate 89.8 14 9514938 (3), 15337401 (2), 17944268 (2), 10406636 (1) (see all 8)
    rimantadine 88.6 24 11218299 (1), 18220963 (1), 18820569 (1), 11779387 (1) (see all 20)
    peramivir 88.5 11 17109288 (1), 17235399 (1), 16430195 (1), 14516917 (1) (see all 11)
    amantadine 84.7 36 11218299 (1), 18220963 (1), 11810539 (1), 11779387 (1) (see all 32)
    4-amino-neu5ac2en 80.6 2 8787876 (1), 15044728 (1)
    neu5ac2en 80.4 7 16575531 (1), 7851958 (1), 9655825 (1), 8257298 (1) (see all 6)
    2'-(4-methylumbelliferyl)-alpha-d-n-acetylneuraminic acid 76.4 2 15885103 (1)



    NEU1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for NEU1 gene: 
    NM_000434.3  

    Unigene Cluster for NEU1:

    Sialidase 1 (lysosomal sialidase)
    Hs.520037  [show with all ESTs]
    Unigene Representative Sequence: NM_000434
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000495807 ENST00000480384 ENST00000491768 ENST00000375631(uc003nxq.4)

    miRNA
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    Block miRNA regulation of human, mouse, rat NEU1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NEU1 (see all 12):
    hsa-miR-205 hsa-miR-125a-5p hsa-miR-1283 hsa-miR-520d-5p hsa-miR-130a* hsa-miR-23c hsa-miR-23b hsa-miR-125b
    SwitchGear 3'UTR luciferase reporter plasmidNEU1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for NEU1
    Predesigned siRNA for gene silencing in human, mouse, rat NEU1
    Clone
    Products:
         
    OriGene clones in human, mouse for NEU1 (see all 8)
    OriGene ORF clones in mouse, rat for NEU1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NEU1 (NM_000434)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NEU1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NEU1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for NEU1
    OriGene qSTAR qPCR primer pairs in human, mouse for NEU1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NEU1
      QuantiTect SYBR Green Assays in human, mouse, rat NEU1
      QuantiFast Probe-based Assays in human, mouse, rat NEU1

    Additional mRNA sequence: 

    AF040958.1 AK290966.1 AK313006.1 BC000722.2 BC011900.2 BT007206.1 CR456717.1 CR541916.1 
    U84246.1 X78687.1 

    15 DOTS entries:

    DT.446959  DT.100880808  DT.100659171  DT.100880797  DT.75140380  DT.121318862  DT.100696900  DT.92441790 
    DT.92053464  DT.95264565  DT.121318944  DT.121318960  DT.91987405  DT.92337442  DT.75163808 

    Selected AceView cDNA sequences (see all 467):

    CR621134 BE733682 CR613752 CA306786 BU732908 BU156900 CR604418 AI143622 
    BQ650948 AA876184 CR616447 BU846346 BE221170 BX499366 BQ064552 BC011900 
    CD108006 BE670726 BE407605 BQ423259 AW780372 CR610204 BG822167 AA313666 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NEU1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTGACTATC
    NEU1 Expression
    About this image


    NEU1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Ovary (Reproductive System)
             Mature follicles
    NEU1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NEU1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.520037

    UniProtKB/Swiss-Prot: NEUR1_HUMAN, Q99519
    Tissue specificity: Highly expressed in pancreas, followed by skeletal muscle, kidney, placenta, heart, lung and
    liver. Weakly expressed in brain

        Pathway & Disease-focused RT2 Profiler PCR Array including NEU1: 
              Glycosylation in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for NEU1
    OriGene qSTAR qPCR primer pairs in human, mouse for NEU1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NEU1
    QuantiTect SYBR Green Assays in human, mouse, rat NEU1
    QuantiFast Probe-based Assays in human, mouse, rat NEU1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NEU1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for NEU1 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Neu11 , 5 neuraminidase 11, 5 83.79(n)1
    83.7(a)1
      17 (18.48 cM)5
    180101  NM_010893.31  NP_035023.31 
     349312535 
    lizard
    (Anolis carolinensis)
    Reptilia NEU16
    sialidase 1 (lysosomal sialidase)
    63(a)
    1 ↔ 1
    2(194099936-194126168)
    African clawed frog
    (Xenopus laevis)
    Amphibia BX845467.12   -- 74.14(n)    BX845467.1 
    zebrafish
    (Danio rerio)
    Actinopterygii neu11 neuraminidase 1 59.64(n)
    60.8(a)
      559850  NM_001044909.2  NP_001038374.1 


    ENSEMBL Gene Tree for NEU1 (if available)
    TreeFam Gene Tree for NEU1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for NEU1 (see all 129)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289405831,2,,4
    CSialidosis (SIALIDOSIS)4 pathogenic131745557(-) TCATCG/ATGTGT 2 /M /V mis12Minor allele frequency- A:0.00WA NA 4670
    VAR_0122174
    Sialidosis (SIALIDOSIS)4--see VAR_0122172 F Y mis40--------
    VAR_0174604
    Sialidosis (SIALIDOSIS)4--see VAR_0174602 P L mis40--------
    VAR_0122094
    Sialidosis (SIALIDOSIS)4--see VAR_0122092 L R mis40--------
    VAR_0122194
    Sialidosis (SIALIDOSIS)4--see VAR_0122192 L F mis40--------
    VAR_0122234
    Sialidosis (SIALIDOSIS)4--see VAR_0122232 P Q mis40--------
    VAR_0180774
    Sialidosis (SIALIDOSIS)4--see VAR_0180772 R G mis40--------
    VAR_0122104
    Sialidosis (SIALIDOSIS)4--see VAR_0122102 S G mis40--------
    VAR_0122184
    Sialidosis (SIALIDOSIS)4--see VAR_0122182 L P mis40--------
    VAR_0122254
    Sialidosis (SIALIDOSIS)4--see VAR_0122252 Y C mis40--------

    HapMap Linkage Disequilibrium report for NEU1 (31825436 - 31830709 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for NEU1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv509126CNV Insertion20534489
    nsv508399CNV Loss20534489
    nsv884472CNV Loss21882294
    dgv6583n71CNV Loss21882294
    dgv6594n71CNV Loss21882294
    dgv6592n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): NEU1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NEU1
    DNA2.0 Custom Variant and Variant Library Synthesis for NEU1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 608272   
    OMIM disorders: 256550  
    UniProtKB/Swiss-Prot: NEUR1_HUMAN, Q99519
  • Sialidosis (SIALIDOSIS) [MIM:256550]: Lysosomal storage disease occurring as two types with various
    manifestations. Type 1 sialidosis (cherry red spot-myoclonus syndrome or normosomatic type) is late-onset and it
    is characterized by the formation of cherry red macular spots in childhood, progressive debilitating myoclonus,
    insiduous visual loss and rarely ataxia. The diagnosis can be confirmed by the screening of the urine for
    sialyloligosaccharides. Type 2 sialidosis (also known as dysmorphic type) occurs as several variants of
    increasing severity with earlier age of onset. It is characterized by the presence of abnormal somatic features
    including coarse facies and dysostosis multiplex, vertebral deformities, mental retardation, cherry-red
    spot/myoclonus, sialuria, cytoplasmic vacuolation of peripheral lymphocytes, bone marrow cells and conjunctival
    epithelial cells. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for NEU1 (see all 113):    
    About MalaCards
    sialidosis, type ii    congenital sialidosis type 2    sialidosis type i    newcastle disease
    parainfluenza virus type 3    swine influenza    avian influenza    juvenile sialidosis type 2
    hydrops fetalis    galactosialidosis    canavan disease    bacterial vaginosis
    inflammatory breast carcinoma    abacavir hypersensitivity    influenza    sheehan syndrome
    gangliosidosis    gangliosidosis gm1    mumps    nephrosis

    1 disease from the University of Copenhagen DISEASES database for NEU1:
    Gangliosidosis

    NEU1 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for NEU1 gene (see all 96)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    influenza 93.5 1210 19995812 (7), 17405969 (5), 18978531 (5), 10679035 (4) (see all 99)
    sialidosis 90.7 42 14695530 (2), 15908988 (2), 9054950 (2), 11702224 (2) (see all 33)
    sialidase deficiency 87.8 14 9480870 (2), 7850863 (2), 1588015 (1), 11195014 (1) (see all 12)
    swine influenza 76 5 9311570 (1), 12734230 (1), 15340540 (1), 19673419 (1) (see all 5)
    parainfluenza 73.2 20 8525632 (2), 15890905 (1), 17229690 (1), 17522226 (1) (see all 16)
    virus infection 65 60 8492089 (4), 16220098 (2), 8525632 (2), 16682242 (2) (see all 45)
    viral shedding 62.4 7 16220098 (3), 17494613 (1), 15494906 (1), 16595309 (1) (see all 5)
    fowl plague 61.5 1 1281944 (1)
    influenza pneumonia 55.9 3 17087332 (2), 17342649 (1)
    gangliosidosis gm1 55.4 2 16111643 (1), 11400749 (1)

    Genatlas disease: NEU1
    mucolipidosis,type I,sialidosis,types I and II,hydrops fetalis

    Genetic Association Database (GAD): NEU1
    Human Genome Epidemiology (HuGE) Navigator: NEU1 (2 documents)

    Export disorders for NEU1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for NEU1 gene, integrated from 10 sources (see all 863):
    (articles sorted by number of sources associating them with NEU1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis. (PubMed id 9054950)1, 2, 3, 9 Pshezhetsky A.V....Potier M. (Nat. Genet. 1997)
    2. Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis. (PubMed id 8985184)1, 2, 9 Bonten E.J.... d'Azzo A. (Genes Dev. 1996)
    3. Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression. (PubMed id 14695530)1, 2, 9 Pattison S.... Igdoura S.A. (Hum. Mutat. 2004)
    4. Mutations in sialidosis impair sialidase binding to the lysosomal multienzyme complex. (PubMed id 11279074)1, 2, 9 Lukong K.E.... Pshezhetsky A.V. (J. Biol. Chem. 2001)
    5. Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex. (PubMed id 10767332)1, 2, 9 Lukong K.E.... Pshezhetsky A.V. (Hum. Mol. Genet. 2000)
    6. Molecular mechanism of lysosomal sialidase deficiency in galactosialidosis involves its rapid degradation. (PubMed id 9480870)1, 2, 9 Vinogradova M.V.... Pshezhetsky A.V. (Biochem. J. 1998)
    7. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PubMed id 19851445)1, 4 Barcellos L.F....Criswell L.A. (PLoS Genet. 2009)
    8. Variants of the ST6GALNAC2 promoter influence transcriptional activity and contribute to genetic susceptibility to IgA nephropathy. (PubMed id 17480010)1, 4 Li G.S....Wang H.Y. (Hum. Mutat. 2007)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Analysis of the gene-dense major histocompatibility complex class III region and its comparison to mouse. (PubMed id 14656967)1, 2 Xie T.... Hood L. (Genome Res. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4758 HGNC: 7758 AceView: NEU1 Ensembl:ENSG00000204386 euGenes: HUgn4758
    ECgene: NEU1 Kegg: 4758 H-InvDB: NEU1

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for NEU1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=NEU1[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/Neuraminidase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NEU1 gene:
    Search GeneIP for patents involving NEU1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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